{
    "disease_id": "DOID:0070745",
    "recommended_name": {
        "id": "DOID:0070745",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070745",
        "name": "early-onset progressive encephalopathy with brain atrophy and spasticity",
        "description": "An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070745",
            "name": "PEBAS",
            "description": ""
        },
        {
            "id": "MONDO:0044696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044696",
            "name": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044696",
            "name": "PEBAS",
            "description": ""
        },
        {
            "id": "MIM:617669",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617669",
            "name": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity",
            "description": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070745"
    ],
    "unlinked_id_list": []
}